Variant: 12-64875638-C-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64875638-C-G p.Leu277Val missense TBK1 1 9162 1.0914647E-4 4581 0 1.23877E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.829C>G p.Leu277Val probably
upstream_gene TBK1 ENST00000536906 n.-2549C>G NA NA
upstream_gene TBK1 ENST00000545025 n.-2183C>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 1.23877E-5 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 119 0.46218488 99 PASS